Skeletal Dysplasia_Fetal

Gene: FLNB

Green List (high evidence)

FLNB (filamin B)
EnsemblGeneIds (GRCh38): ENSG00000136068
EnsemblGeneIds (GRCh37): ENSG00000136068
OMIM: 603381, Gene2Phenotype
FLNB is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene associated with a number of skeletal dysplasias, which are relevant to the pre-natal setting.
Created: 3 Dec 2019, 3:55 a.m. | Last Modified: 23 Dec 2021, 3:07 a.m.
Panel Version: 0.1604

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Larsen syndrome, MIM#150250; Atelosteogenesis, type I, MIM# 108720; Atelosteogenesis, type III, MIM# 108721; Boomerang dysplasia, MIM# 112310; Spondylocarpotarsal synostosis syndrome, MIM# 272460

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
603381
Clinvar variants
Variants in FLNB
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLNB was added gene: FLNB was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLNB was set to Unknown